Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36106319G>T , CM000663.2:g.36106319G>T | GRCh38 |
| NC_000001.10:g.36571920G>T , CM000663.1:g.36571920G>T | GRCh37 |
| NC_000001.9:g.36344507G>T | NCBI36 |
| NG_016245.2:g.23766C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005202.4:c.-16-6061C>A MANE Select | NP_005193.1:n.-16-6061C>A |
| ENST00000397799.2:c.-16-6061C>A MANE Select | ENSP00000380901.1:n.-16-6061C>A |
| NM_001294347.1:c.-66-6061C>A | NP_001281276.1:n.-66-6061C>A |
| NM_001294347.2:c.-66-6061C>A | NP_001281276.1:n.-66-6061C>A |
| NM_005202.3:c.-16-6061C>A | NP_005193.1:n.-16-6061C>A |
| ENST00000397799.1:c.-16-6061C>A | ENSP00000380901.1:n.-16-6061C>A |
| XM_005270477.2:c.216-6061C>A | XP_005270534.1:n.216-6061C>A |
| XM_005270477.3:c.216-6061C>A | XP_005270534.1:n.216-6061C>A |